MGC89112 Protein, zgc:112343 Protein, MGC116480 Protein, GLOD2 Protein, 1110007A04Rik Protein, methylmalonyl-CoA epimerase Protein, methylmalonyl CoA epimerase Protein, methylmalonyl-CoA epimerase S homeolog Protein, MCEE Protein, mcee Protein, mcee.S Protein, Mcee Protein
Sujet
MCEE catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids, odd chain-length fatty acids, and other metabolites. This protein deficiency is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Recombinant human MCEE protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques. Synonyms: Methylmalonyl CoA epimerase, DL methylmalonyl CoA racemase, EC 5.1.99.1, GLOD2, Glyoxalase domain containing 2. NCBI no.: NP_115990